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Dnai1b2b284Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Dnai1b2b284Clo
Name: dynein axonemal intermediate chain 1; Bench to Bassinet Program (B2B/CVDC), mutation 284 Cecilia Lo
MGI ID: MGI:5285080
Synonyms: Bishu, Dnaic1IVS4+1G-A
Gene: Dnai1  Location: Chr4:41569775-41638158 bp, + strand  Genetic Position: Chr4, 21.75 cM
Dextrocardia with parallel outflow tracts suggestive of DORV (confirmed by EFIC imaging).

Show the 19 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to A substitution at nucleotide +1 after coding nucleotide 240 (c.240+1G>A) in intron 4. This changes splice donor site A-GT to A-AT (which is assumed to be inactive). (J:175213, J:216862)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Dnai1 Mutation:  34 strains or lines available
Notes
Summative Diagnosis
Cardiovascular defects: Laterality defects with situs inversus totalis, heterotaxy and congenital heart disease: Atrioventricular setpal defect (AVSD), transposition of the great arteries (TGA), and double outlet right ventricle (DORV).
Non-cardiovascular defects: Tracheal airway cilia immotile, but very few cilia are observed to have twitching motion.

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
0100 Situs inversus totalis
0110 Dextrocardia
0190 Heterotaxy syndrome
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
3804 Congenital heart disease
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3237 Bronchial situs inversus

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-15;
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/23/2021
MGI 6.17
The Jackson Laboratory